Canonical Allele Identifier: PA915999841
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251746
ClinVar RCV Id: RCV000237586

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Met412Ile
CA10585370
NM_001195798.2:c.1236G>A
CA404084741
NM_001195798.2:c.1236G>C
CA404084742
NM_001195798.2:c.1236G>T